04/25/2015

姓名:  Audrey

年龄: 42 Yrs. Old

国家:美国

LGMD 子类型:LGMD2i

您在几岁时确诊:
I was diagnosed with LGMD when I was 37. I had never heard of it before my diagnosis.

您最初的症状是什么？:

I noticed in my twenties I began having trouble climbing stairs, raising from the floor, and lifting my legs. Unfortunately, I didn’t know how abnormally weak I was becoming. I thought I was just out of shape or uncoordinated. When I needed physical therapy for shoulder pain, the PT sent me back to my doctor because she recognized something was seriously wrong.

DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD:

My older sister also has LGMD2i, but her progression is slower.

您认为患有 LGMD 的最大挑战是什么？:

My greatest challenge has been to accept help without feeling like a burden on others. I’m still able to walk, but I need a lot of help from my family with everyday life. I am so fortunate to have such a great family support system. Sometimes I can’t believe how lucky I am!

您最大的成就是什么:

I’ve spent the last 23 years being a mother to my 3 daughters. Motherhood is certainly my greatest accomplishment.

lgmd 是如何影响你成为今天的自己的？:

LGMD has allowed me to simply accept what life offers. When faced with this diagnosis and an uncertain future, I’ve found out I’m still okay… I can do this, and I’m going to be okay!

您希望世界了解 LGMD 的哪些方面？:

I think it would be great to put LGMD on more people’s radar. Most doctors I’ve seen haven’t heard of it.

如果明天就能 "治愈 "你的老年痴呆症，你最想做的第一件事是什么？:

If I were cured tomorrow, I’d run. I’d run as far as I could, then I would climb the stairs. I’d help every person who dropped something pick it up. I would plant and tend a beautiful garden. I would never take these legs for granted!